Does genome sequencing help find a diagnosis for children with developmental disorders?

Genome sequencing is a tool used to identify the genetic basis of developmental disorders. It looks at the child's entire genetic code to find mutations that may cause physical, cognitive, or behavioral challenges.

What the research says

Research shows that genome sequencing (GS) can provide a higher diagnostic yield than standard methods. In a large study of children with unexplained developmental disorders, GS identified a diagnosis in 39.8% of cases, while the standard of care—which included exome sequencing and chromosomal microarrays—identified a diagnosis in 30% of cases ¹. This increase was largely due to the ability of genome sequencing to detect single nucleotide variants and small insertions or deletions ¹.

Genome sequencing is also useful for identifying rare or complex conditions. For example, a study of over 1,100 children with severe, undiagnosed developmental disorders used a combination of exome sequencing and chromosomal analysis to identify 12 new genes associated with these disorders, increasing the overall diagnosis rate ⁶. Additionally, genome sequencing has been used to identify the molecular basis of suspected mitochondrial disorders, providing a diagnosis in approximately 31% of the families studied ⁷.

What to ask your doctor

• How does genome sequencing compare to standard testing for my child's specific symptoms?
• What is the expected diagnostic yield for genome sequencing in cases of developmental disorders?
• Can genome sequencing help identify rare genetic causes or specific mitochondrial disorders?
• What are the benefits of using a genome-wide approach to find a diagnosis?